GJC2, gap junction protein gamma 2, 57165

N. diseases: 115; N. variants: 20
Disease: Congenital nystagmus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.010 GeneticVariation disease BEFREE Unpredictably a homozygous missense GJC2 mutation (p.Glu260Lys) was found in a patient presenting with a very severe clinical picture characterised by congenital nystagmus and severe neurological impairment. 22669416 2013